Hs04655044_cn

• Gene Symbol: CATIP
• Assay Reference Genome Location: Chr.2:218368126 on build GRCh38
• Cytoband: 2q35

Target Gene Details

• Entrez Gene ID: 375307
• Gene Name: ciliogenesis associated TTC17 interacting protein
• Gene Aliases: C2orf62
• Location: Chr.2:218356757-218368393 on Build GRCh38
• Assay Gene Location: Within Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CATIP	NM_001320865.1			NP_001307794.1
	NM_198559.1			NP_940961.1
	XM_005246539.4	9	1352	XP_005246596.1
	XM_005246541.4	8	1151	XP_005246598.1
	XM_011511148.2	9	1319	XP_011509450.1
	XM_011511149.2	8	1150	XP_011509451.1
	XM_011511150.2	8	1116	XP_011509452.1
	XM_017004053.1	8	1551	XP_016859542.1
	AK098178.1
	BC052750.1			AAH52750.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv519829	Chr.2:218286495 - 218403058 on Build GRCh38	Loss	MIR6810 MIR26B TMBIM1 PNKD CATIP-AS2 CATIP-AS1 CTDSP1 CATIP SLC11A1
esv2763102	Chr.2:218353805 - 218374015 on Build GRCh38	Loss	CATIP-AS2 CATIP-AS1 CATIP

More Information

Additional Information:

For this assay, SNP(s) [rs139261507,rs73073029] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

actin filament polymerization
cilium organization

Function(s)

protein binding